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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: pollak mr. Am J Hum Genet. 2024 Mar 27:S0002-9297(24)00081-8. doi: 10.1016/j.ajhg.2024.03.008. Online ahead of print. Am J Hum Genet. 2024. PMID: 38565148
Mice with a Pax2 missense variant display impaired glomerular repair.
Cunanan J, Rajyam SS, Sharif B, Udwan K, Rana A, De Gregorio V, Ricardo S, Elia A, Brooks B, Weins A, Pollak M, John R, Barua M. Cunanan J, et al. Among authors: pollak m. Am J Physiol Renal Physiol. 2024 May 1;326(5):F704-F726. doi: 10.1152/ajprenal.00259.2023. Epub 2024 Mar 14. Am J Physiol Renal Physiol. 2024. PMID: 38482556
Weekend Headaches in School-Age Children.
Triadou D, Bar-Shalom Y, Pollak M, Gal S, Nathan K, Yakovlev M, Genizi J. Triadou D, et al. Among authors: pollak m. Healthcare (Basel). 2023 Dec 26;12(1):60. doi: 10.3390/healthcare12010060. Healthcare (Basel). 2023. PMID: 38200966 Free PMC article.
Diagnostic management of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in close interaction with therapeutic considerations.
Shumilov E, Mazzeo P, Ghandili S, Künstner A, Weidemann S, Banz Y, Ströbel P, Pollak M, Kolloch L, Beltraminelli H, Kerkhoff A, Mikesch JH, Schliemann C, Haase D, Wulf G, Legros M, Lenz G, Feldmeyer L, Pabst T, Witte H, Gebauer N, Bacher U. Shumilov E, et al. Among authors: pollak m. Ann Hematol. 2024 May;103(5):1587-1599. doi: 10.1007/s00277-023-05587-7. Epub 2024 Jan 9. Ann Hematol. 2024. PMID: 38194088 Free PMC article.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty MT, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube GK, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Pinheiro SVB, Oliveira EA, Simoes E Silva AC, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Gupta Y, et al. Among authors: pollak mr. Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9. Nat Commun. 2023. PMID: 38036523 Free PMC article.
850 results